Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case presented here is an 18-month-old female infant with agnogenic myelofibrosis. Clinically, this case was characterized by pancytopenia, hepatosplenomegaly, and rapidly fatal course, without response to steroids or other chemotherapy. Bone marrow biopsy and postmortem examination, revealed myeloid metaplasia of the liver, spleen, and lymph nodes, and conspicuous proliferation of immature cells, presumably of reticulum cells or precursors of hematopoietic cell lines, associated with prominent proliferation of reticular fibrous tissue. These morphologic features corresponded with those of agnogenic myelofibrosis, classified as a form of myeloproliferative disorder. A review of 15 cases of myelofibrosis in children collected from the literature showed a mean age of 2 years and 9 months with most cases being less than 2 years of age. There was a distinct female preponderance, while male infants with myelofibrosis were associated with Down's syndrome or C monosomy. The mean survival was 6.7 months. Approximately 25 cases of myelofibrosis have been reported in the English literature, while only 5 cases have been described in Japan.
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PMID:Agnogenic myelofibrosis in children--a case report and review of the literature. 723 18

Trisomy 21 was diagnosed by prenatal blood sampling at 30 and 31 weeks of gestation, respectively, in two fetuses with hepatosplenomegaly. In both, the fetal blood contained blast cells and cells showing megakaryocytic differentiation. Case 1 died neonatally 1 week later and the cellular infiltration causing enlargement of liver and spleen had a megakaryocytic/megakaryoblastic component staining positively for von Willebrand factor and binding to Ulex europaeus 1. Case 2, when stillborn 4 weeks later, had remarkably severe hepatic and pancreatic fibrosis. Cells in pulmonary vessels had morphology and immunohistochemical reactions consistent with megakaryocytic/megakaryoblastic differentiation. Comparison of the two cases suggests that the visceral fibrosis of perinatal Down syndrome may progress very rapidly in utero. They demonstrate further the association of the fibrosis with a dyshemopoiesis in which there is proliferation of cells of megakaryocytic lineage and a close relationship to the transient leukemia of neonatal Down syndrome.
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PMID:Fetal megakaryocytic dyshemopoiesis in Down syndrome: association with hepatic and pancreatic fibrosis. 750 58

Congenital leukemia is a rare hematological disorder. The initial manifestation of the disease may be the presence of blue or gray skin nodules. The presence of these nodules along with hyperleukocytosis, anemia, hepatosplenomegaly, and central nervous system leukemic involvement are characteristic of the disease. Treatment involves the administration of chemotherapy by protocol. Response to the chemotherapy is generally poor. Infants with Down syndrome may have a transient manifestation of leukemia known as a leukemic disorder; this will resolve without chemotherapy. Other neonatal disorders can also mimic congenital leukemia; the infant must be evaluated for these, in addition to the definitive diagnosis made via bone marrow aspiration and examination. There are many nursing care interventions for the infant with suspected congenital leukemia. The family of an infant with a suspected or diagnosed leukemia requires concrete information and psychosocial support because the prognosis for these infants is grave. We describe the level of care and subsequent outcome for a premature infant who was diagnosed with congenital leukemia and treated with chemotherapy in a Level III nursery.
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PMID:Congenital leukemia: comprehensive nursing care for a rare disease: a case study. 765 67

The in utero diagnosis of fetal myeloproliferative disease was made by cordocentesis following the ultrasound appearance of fetal hepatosplenomegaly and mild hydrops. The 2 fetuses reported both had leukocyte counts greater than 75,000/mm3 with a predominance of blast forms. In both cases the karyotype revealed trisomy 21.
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PMID:Fetal hepatosplenomegaly associated with transient myeloproliferative disorder in trisomy 21. 779 14

In order to characterize the clinical, cytogenetic, and outcome features of childhood acute megakaryoblastic leukemia (AMKL), we reviewed 24 cases; 14 were identified among 150 consecutive newly diagnosed acute myelogenous leukemia (AML) patients at St. Jude Children's Research Hospital, and 10 were cases referred to the National Institute of Cancer in Rio de Janeiro, Brazil. There were 5 Down syndrome patients and one patient with chronic myeloid leukemia (Ph+) in blastic crisis. Twelve patients had significant hepatosplenomegaly. Leukemic cell morphology and cytochemistry were consistent with the M7 classification in 17 cases, and all cases tested expressed megakaryocytic surface antigens. AMKL patients were significantly younger than other AML patients (P = 0.0001) and had poorer responses to therapy (P = 0.03, univariate analysis only). Ten of 24 failed induction, and only 5 are disease-free at 6 months to 4.5+ years. We conclude that AMKL usually affects young children, frequently producing marked organomegaly. It comprises approximately 10% of pediatric AML cases, and responds poorly to intensive AML therapies.
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PMID:Acute megakaryoblastic leukemia in children and adolescents: a retrospective analysis of 24 cases. 822 Jan 28

Four newborn infants with Down syndrome and manifestations of neonatal leukemia are described. One of the four was stillborn, two died shortly after birth, and a fourth survived and all evidence of leukemia disappeared in the first month of life. Three of the four cases had hydrops fetalis, and a fourth was a macerated stillborn. Nine other similar reported cases are reviewed. We conclude that neonatal leukemia in Down syndrome is a form of leukemia that is usually transient, with spontaneous recovery, but may be fatal at or around the time of birth with manifestations of hydrops fetalis, hepatosplenomegaly, and/or progressive liver disease.
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PMID:Hydrops fetalis and neonatal leukemia in Down syndrome. 871 5

We report three infants with Down syndrome who had hepatic fibrosis, which is rare in this syndrome. Liver specimens were obtained by biopsy or autopsy. In one patient, the peripheral blood contained blastoid cells, a typical hematological feature of the transiently abnormal myelopoiesis of Down syndrome. Ascites and hepatosplenomegaly were found in all patients. The intralobular hepatic fibrosis was pericellular and perisinusoidal, and the narrowing of the central veins resembled that in venoocclusive disease of the liver. We found some megakaryocytes in the liver, which were stained for von Willebrand factor and platelet glycoprotein IIb/IIIa. In one specimen, collagen type IV and alpha smooth muscle actin were stained by immunohistochemical methods, so the fibrosis in this case was probably caused by cells such as Ito cells derived from myofibroblasts. Overall, the findings suggest that megakaryocytes in the liver of these three patients produce collagen-stimulating cytokines such as transforming growth factor beta, and that Ito cells were involved in the hepatic fibrosis we observed.
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PMID:[Unusual hepatic fibrosis in three cases of Down syndrome]. 875 40

We describe an infant with the unusual combination of Down syndrome, congenital toxoplasmosis, and central diabetes insipidus. Hydrocephalus was documented by fetal ultrasonography at 36 weeks' gestation. He developed central diabetes insipidus as a neonate, followed by interstitial pneumonia, anemia, and hepatosplenomegaly. The patient's serum titer for Toxoplasma-specific IgM (ELISA) at 37 days after delivery was negative, but the Toxoplasma SAG1 gene was detected from the cells of the cerebrospinal fluid on the same day using the polymerase chain reaction (PCR) method. Congenital toxoplasmosis can contribute to the development of central diabetes insipidus in infants. PCR was useful in diagnosing congenital toxoplasmosis rapidly and accurately.
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PMID:Congenital toxoplasmosis complicated by central diabetes insipidus in an infant with Down syndrome. 890 49

Enlargement of the fetal liver and spleen as well as oligohydramnios were the only pathological sonographic signs detected in a pregnant woman presenting because of decreased fetal movements at 31 weeks' gestation. Doppler examination of fetal vessels revealed pathological values (absent or reversed flow in the umbilical artery, centralization of fetal circulation). No hydrops development or any further malformations were seen. The association of pathological Doppler findings with hepatosplenomegaly roused the suspicion of fetal infection. The infant had to be delivered because of deterioration of fetal heart rate patterns 2 days later. The newborn had Down's syndrome and the confirmed hepatosplenomegaly was found to be due to a transient myeloproliferative disorder with severe leukocytosis and predominance of immature blast forms. Hematological parameters normalized without specific therapy within 3 weeks. Although transient leukemic reactions have been diagnosed prenatally in cases of Down's syndrome associated with non-immune hydrops, to our knowledge this is the first reported case of isolated hepatosplenomegaly visualized by prenatal ultrasound as a sign of trisomy 21. The presence of fetal hepatosplenomegaly has to be taken into consideration as a possible marker for trisomy 21 and not only for infectious or metabolic diseases.
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PMID:Fetal hepatosplenomegaly: an isolated sonographic sign of trisomy 21 in a case of myeloproliferative disorder. 967 95

Myelodysplastic syndromes (MDS) and myeloproliferative syndromes (MPS) of childhood are a heterogeneous group of clonal disorders of hematopoiesis with overlapping clinical features and inconsistent nomenclature. Although a number of genetic conditions have been associated with MDS and MPS, the overall contribution of inherited predispositions is uncertain. We report a retrospective study examining clinical features, genetic associations, and outcomes in 167 children with MDS and MPS. Of these patients, 48 had an associated constitutional disorder. One hundred one patients had adult-type myelodysplastic syndrome (A-MDS), 60 had juvenile myelomonocytic leukemia (JMML), and 6 infants with Down syndrome had a transient myeloproliferative syndrome (TMS). JMML was characterized by young age at onset and prominent hepatosplenomegaly, whereas patients with A-MDS were older and had little or no organomegaly. The most common cytogenetic abnormalities were monosomy 7 or del(7q) (53 cases); this was common both in patients with JMML and those with A-MDS. Leukemic transformation was observed in 32% of patients, usually within 2 years of diagnosis. Survival was 25% at 16 years. Favorable prognostic features at diagnosis included age less than 2 years and a hemoglobin F level of less than 10%. Older patients tended to present with an adult-type MDS that is accommodated within the French-American-British system. In contrast, infants and young children typically developed unique disorders with overlapping features of MDS and MPS. Although the type and intensity of therapy varied markedly in this study, the overall outcome was poor except in patients with TMS.
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PMID:Myelodysplastic and myeloproliferative disorders of childhood: a study of 167 patients. 988 7


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